ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827138942
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
820656
ClinVar RCV Id:
RCV001014324
RCV001037162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Tyr604His
CA366737955
NM_001322015.1:c.1810T>C